IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Human molecular genetics 2016 imex curation Sollis E., Graham SA., Vino A., Froehlich H., Vreeburg M., Dimitropoulou D., Gilissen C., Pfundt R., Rappold GA., Brunner HG., Deriziotis P., Fisher SE. Rare diseases - Interactions investigated in the context of Rare genetic disease I think p.A339SfsX4 in HGVS would be p.ala339serfsTer4. (as currently entered) Probably not necessary to enter it as a Feature at all - it is covered by the "required to Bind" region 439-525 - I have already entered a comment, and this is probably all that is needed. Sequence change is from ACA_GCCCAATG to mutant ACAAGCCCAATG (as given in ref 8 Supp fig 5A) -+ matched to Ensembl. The A339SfsX4 mutation has an insertion and frameshift with premature STOP; I cannot see how to correctly enter this under current rules so have entered under "new" rules. elagia.derizioti@mpi.nl, simon.fisher@mpi.nl 15-Nov-2017: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. bret bioluminescence resonance energy transfer BRET LRET LRET BRET bret tag visualisation tag visualisation Sollis E., Graham SA., Vino A., Froehlich H., Vreeburg M., Dimitropoulou D., Gilissen C., Pfundt R., Rappold GA., Brunner HG., Deriziotis P., Fisher SE. Rare diseases - Interactions investigated in the context of Rare genetic disease The cells/cell line used for BRET is not mentioned in this publication but Refs 18 + 19 use 293 cells, so it has been assumed these were used in this publication also. I think p.A339SfsX4 in HGVS would be p.ala339serfsTer4. (as currently entered) Probably not necessary to enter it as a Feature at all - it is covered by the "required to Bind" region 439-525 - I have already entered a comment, and this is probably all that is needed. Sequence change is from ACA_GCCCAATG to mutant ACAAGCCCAATG (as given in ref 8 Supp fig 5A) -+ matched to Ensembl. The A339SfsX4 mutation has an insertion and frameshift with premature STOP; I cannot see how to correctly enter this under current rules so have entered under "new" rules. elagia.derizioti@mpi.nl, simon.fisher@mpi.nl Accepted 2017-NOV-03 AT 09:43 GMT AT 09:43 GMT by ORCHARD Human molecular genetics 2016 imex curation Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Human molecular genetics 2016 imex curation Sollis E., Graham SA., Vino A., Froehlich H., Vreeburg M., Dimitropoulou D., Gilissen C., Pfundt R., Rappold GA., Brunner HG., Deriziotis P., Fisher SE. Rare diseases - Interactions investigated in the context of Rare genetic disease I think p.A339SfsX4 in HGVS would be p.ala339serfsTer4. (as currently entered) Probably not necessary to enter it as a Feature at all - it is covered by the "required to Bind" region 439-525 - I have already entered a comment, and this is probably all that is needed. Sequence change is from ACA_GCCCAATG to mutant ACAAGCCCAATG (as given in ref 8 Supp fig 5A) -+ matched to Ensembl. The A339SfsX4 mutation has an insertion and frameshift with premature STOP; I cannot see how to correctly enter this under current rules so have entered under "new" rules. elagia.derizioti@mpi.nl, simon.fisher@mpi.nl 15-Nov-2017: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. confocal microscopy confocal microscopy tag fluorescence tag visualisation by fluorescence tag fluorescence Sollis E., Graham SA., Vino A., Froehlich H., Vreeburg M., Dimitropoulou D., Gilissen C., Pfundt R., Rappold GA., Brunner HG., Deriziotis P., Fisher SE. Rare diseases - Interactions investigated in the context of Rare genetic disease I think p.A339SfsX4 in HGVS would be p.ala339serfsTer4. (as currently entered) Probably not necessary to enter it as a Feature at all - it is covered by the "required to Bind" region 439-525 - I have already entered a comment, and this is probably all that is needed. Sequence change is from ACA_GCCCAATG to mutant ACAAGCCCAATG (as given in ref 8 Supp fig 5A) -+ matched to Ensembl. The A339SfsX4 mutation has an insertion and frameshift with premature STOP; I cannot see how to correctly enter this under current rules so have entered under "new" rules. elagia.derizioti@mpi.nl, simon.fisher@mpi.nl Accepted 2017-NOV-03 AT 09:43 GMT AT 09:43 GMT by ORCHARD Human molecular genetics 2016 imex curation foxp2_human Forkhead box protein P2 CAG repeat protein 44 Trinucleotide repeat-containing gene 10 protein FOXP2 CAGH44 TNRC10 protein protein human Homo sapiens Human MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQAARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQALLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQGLISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTTSSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDFGQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSPKPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHSDKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPTSLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSPGCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE DIP protein O15409 original sequence version: 60 DIP protein O15409 original sequence version: 100 4F9FBDB6D90516E0 foxp1_human Forkhead box protein P1 FOXP1 Mac-1-regulated forkhead HSPC215 protein protein human Homo sapiens Human MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGNNHSSLDLTTTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME DIP protein Q9H334 original sequence version: 89 AEE92D47BB20964B foxp1-1 1 4 unspecified role unspecified role fluorescence accept fluorescence acceptor fluorescence accept c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM As given by the p.ala339serfsTer4 variant. This variant lacks the 339-C tem region and has three residues (SPM) added instead. region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Gln76[2] mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain Q QQ Wed May 02 19:06:58 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gln76gln_gln' Tue Jun 30 19:03:02 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln76[2]' Q9H334:p.Ile107Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain I T Wed May 02 16:57:43 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile107thr' Tue Jun 30 15:49:52 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile107Thr' Q9H334:p.Pro215Ala mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain P A Wed May 02 16:42:19 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro215ala' Tue Jun 30 18:47:50 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro215Ala' Q9H334:p.Asn570Ser mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N S Wed May 02 17:43:21 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn570ser' Tue Jun 30 20:23:15 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn570Ser' Q9H334:p.Asn597Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N T Wed May 02 16:58:56 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn597thr' Tue Jun 30 15:46:51 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn597Thr' Q9H334:p.Arg465Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Wed May 02 19:11:35 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 17:03:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 18:45:13 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 19:30:26 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 15:46:25 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 18:59:47 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus yfp tag yellow fluorescent protein tag YFP yellow fluorescent protein yellow fluorescent protein YFP yfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range 4 unspecified role unspecified role fluorescence donor fluorescence donor n_terminus renilla luciferase renilla luciferase protein tag renilla luciferase n-term range n-terminal range n-term range n-term range n-terminal range n-term range proximity proximity close-contact colocalization neighbourhood interaction figure 5A, Supp fig 1, 4A, Table 4 The A339SfsX4 mutation has a single base insertion (+A relative to mRNA) in FOXP1, introducing a frameshift and premature stop codon. It does not bind to WT FOXP1. p.ala339serfsTer4 = A339SfsX4 mutant - ensure this is not removed by Update! foxp1-3 2 4 unspecified role unspecified role neutral component neutral component region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Arg465Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Wed May 02 18:08:50 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 18:22:29 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 20:29:15 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 17:13:53 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 15:02:35 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 19:46:12 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus yfp tag yellow fluorescent protein tag YFP yellow fluorescent protein yellow fluorescent protein YFP yfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM 4 unspecified role unspecified role neutral component neutral component n_terminus mcherry mcherry fluorescent protein tag mcherry n-term range n-terminal range n-term range n-term range n-terminal range n-term range colocalization colocalization figure 5B, Supp figure 4B The A339SfsX4 mutation has a single base insertion (+A relative to mRNA) in FOXP1, introducing a frameshift and premature stop codon. It does not bind to WT FOXP1. When co-expressed with WT FOXP1 or FOXP2 proteins, the p.R465G and p.R514C variants led to mislocalization of the WT proteins in nuclear aggregates and with the p.Y439* variant resulted in translocation of the WT proteins into cytoplasmic aggregates. I have only added a comment for Supp fig 4B as I am not sure that some/which ones are "mutations decreasing" as not all images look the same to me - if you dont like this I can add all mutants as "no -effects". For Supplementary Figure 4 it is stated that "all variants were able to self-associate and to interact with WT FOXP1 and FOXP2". foxp2-foxp1-2 1 4 unspecified role unspecified role fluorescence accept fluorescence acceptor fluorescence accept c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM As given by the p.ala339serfsTer4 variant. This variant lacks the 339-C tem region and has three residues (SPM) added instead. region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Arg465Gly mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain R G Wed May 02 19:18:19 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 20:07:52 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 15:49:40 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 18:11:48 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 18:10:39 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 18:21:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus yfp tag yellow fluorescent protein tag YFP yellow fluorescent protein yellow fluorescent protein YFP yfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range Q9H334:p.Asn597Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N T Wed May 02 18:14:47 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn597thr' Tue Jun 30 17:09:00 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn597Thr' Q9H334:p.Gln76[2] mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain Q QQ Wed May 02 16:29:16 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gln76gln_gln' Tue Jun 30 18:07:23 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln76[2]' Q9H334:p.Ile107Thr mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain I T Wed May 02 16:14:33 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile107thr' Tue Jun 30 18:30:32 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile107Thr' Q9H334:p.Pro215Ala mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain P A Wed May 02 17:28:06 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro215ala' Tue Jun 30 15:38:01 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro215Ala' Q9H334:p.Asn570Ser mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N S Wed May 02 16:58:20 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn570ser' Tue Jun 30 17:04:03 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn570Ser' 3 unspecified role unspecified role fluorescence donor fluorescence donor n_terminus renilla luciferase renilla luciferase protein tag renilla luciferase n-term range n-terminal range n-term range n-term range n-terminal range n-term range proximity proximity close-contact colocalization neighbourhood interaction figure 6A, Supp fig 5A, Table 4 The A339SfsX4 mutation has a single base insertion (+A relative to mRNA) in FOXP1, introducing a frameshift and premature stop codon. It does not bind to WT FOXP1. p.ala339serfsTer4 = A339SfsX4 mutant - ensure this is not removed by Update! foxp1-foxp1-1 2 4 unspecified role unspecified role neutral component neutral component c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM As given by the p.ala339serfsTer4 variant. This variant lacks the 339-C tem region and has three residues (SPM) added instead. region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Arg465Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R G Wed May 02 17:56:37 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 16:47:35 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 15:22:26 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 16:20:01 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 15:06:17 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 16:58:58 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus yfp tag yellow fluorescent protein tag YFP yellow fluorescent protein yellow fluorescent protein YFP yfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range 3 unspecified role unspecified role neutral component neutral component n_terminus mcherry mcherry fluorescent protein tag mcherry n-term range n-terminal range n-term range n-term range n-terminal range n-term range colocalization colocalization figure 6B The A339SfsX4 mutation has a single base insertion (+A relative to mRNA) in FOXP1, introducing a frameshift and premature stop codon. It does not bind to WT FOXP1. When co-expressed with WT FOXP1 or FOXP2 proteins, the p.R465G and p.R514C variants led to mislocalization of the WT proteins in nuclear aggregates and with the p.Y439* variant resulted in translocation of the WT proteins into cytoplasmic aggregates. For Supplementary Figure 5 it is stated that "all variants were able to self-associate and to interact with WT FOXP1 and FOXP2". as for Fig S4 I have no idea what the colours mean so have just left a comment foxp1-4 1 4 unspecified role unspecified role fluorescence donor fluorescence donor c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM As given by the p.ala339serfsTer4 variant. This variant lacks the 339-C tem region and has three residues (SPM) added instead. region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Arg465Gly mutation increasing strength mutation increasing interaction strength mutation increasing strength certain certain sequence position certain certain certain sequence position certain R G Wed May 02 20:03:15 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 17:53:33 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 20:24:31 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 19:26:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 19:44:46 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 18:48:50 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus renilla luciferase renilla luciferase protein tag renilla luciferase n-term range n-terminal range n-term range n-term range n-terminal range n-term range Q9H334:p.Gln76[2] mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain Q QQ Wed May 02 14:29:45 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gln76gln_gln' Tue Jun 30 17:20:09 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln76[2]' Q9H334:p.Ile107Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain I T Wed May 02 19:54:26 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile107thr' Tue Jun 30 19:34:57 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile107Thr' Q9H334:p.Pro215Ala mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain P A Wed May 02 16:48:07 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro215ala' Tue Jun 30 20:21:00 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro215Ala' Q9H334:p.Asn570Ser mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N S Wed May 02 18:03:13 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn570ser' Tue Jun 30 17:08:35 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn570Ser' Q9H334:p.Asn597Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N T Wed May 02 16:44:18 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn597thr' Tue Jun 30 18:01:56 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn597Thr' 4 unspecified role unspecified role fluorescence accept fluorescence acceptor fluorescence accept Q9H334:p.Gln76[2] mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain Q QQ Wed May 02 15:42:50 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'gln76gln_gln' Tue Jun 30 18:31:39 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln76[2]' Q9H334:p.Ile107Thr mutation increasing strength mutation increasing interaction strength mutation increasing strength certain certain sequence position certain certain certain sequence position certain I T Wed May 02 16:37:39 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ile107thr' Tue Jun 30 18:20:24 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile107Thr' Q9H334:p.Pro215Ala mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain P A Wed May 02 19:01:28 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro215ala' Tue Jun 30 19:57:19 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro215Ala' Q9H334:p.Asn570Ser mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N S Wed May 02 17:01:22 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn570ser' Tue Jun 30 17:39:18 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn570Ser' Q9H334:p.Asn597Thr mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain N T Wed May 02 15:35:22 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asn597thr' Tue Jun 30 19:49:00 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asn597Thr' c-terminal region p.ala339serfsTer4 variant required to bind necessary binding region required to bind certain certain sequence position certain c-term range C-terminal range c-term range AQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLASAIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNEDME SPM As given by the p.ala339serfsTer4 variant. This variant lacks the 339-C tem region and has three residues (SPM) added instead. region required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain Q9H334:p.Arg465Gly mutation increasing strength mutation increasing interaction strength mutation increasing strength certain certain sequence position certain certain certain sequence position certain R G Wed May 02 17:43:10 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg465gly' Tue Jun 30 19:58:40 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg465Gly' Q9H334:p.Arg514Cys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R C Wed May 02 16:29:56 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg514cys' Tue Jun 30 16:21:58 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg514Cys' Q9H334:p.Trp534Arg mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W R Wed May 02 16:05:23 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp534arg' Tue Jun 30 16:25:30 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp534Arg' n_terminus yfp tag yellow fluorescent protein tag YFP yellow fluorescent protein yellow fluorescent protein YFP yfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range proximity proximity close-contact colocalization neighbourhood interaction Supp fig 1, 3C The A339SfsX4 mutation has a single base insertion (+A relative to mRNA) in FOXP1, introducing a frameshift and premature stop codon. It does not bind to WT FOXP1. p.ala339serfsTer4 = A339SfsX4 mutant - ensure this is not removed by Update!